ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.655+6T>C

gnomAD frequency: 0.00001  dbSNP: rs2063202198
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327058 SCV001518118 uncertain significance Combined oxidative phosphorylation defect type 27 2022-05-29 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the CARS2 gene. It does not directly change the encoded amino acid sequence of the CARS2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1026587). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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